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About the Study

The goal of the Coriell Personalized Medicine Collaborative (CPMC) is to research whether
personalized genetic information can be used to improve people’s health. To do this,
participants are asked to give a saliva sample that is used to look for genetic
variants associated with common diseases and medication response. Participants are
also asked to provide information about their health, medication use, family history
and lifestyle. This information is then used to create customized risk reports.

Although genes contribute to our risk for every condition, the CPMC will only test
for diseases that are potentially actionable.

Diseases are considered to be potentially actionable when participants can either
take steps to lower their risk of developing the disease or when early diagnosis
of a disease may lead to an improved outcome. Examples of potentially actionable
conditions include type 2 diabetes where making changes to diet and exercise may
reduce the risk of the condition and colon cancer where early diagnosis improves
the outcome.

The CPMC will create a personalized risk report for each participant. The risk report
may help participants better understand that disease risk comes from different sources,
only one of which is genetic.

Whenever possible the CPMC risk report will include information about disease risk
due to a specific genetic variant, family history factors, demographics such as
race, age, and gender, as well as lifestyle and other factors. While CPMC will initially
report genetic risk based on only one genetic variant per condition, in the future,
we hope to report each disease risk using a group of genetic variants that together
are a stronger predictor of disease risk than a single variant.

Your personalized risk report will also include information about how your genetics affects
the way you respond to certain medications.

One of the major goals of the CPMC is to determine how natural genetic variation can affect
the way you respond to prescription drugs, as well as how this information can best be used
in making treatment choices.

This study is called a “collaborative” because it brings together different groups
to examine how personal genetic information can be used in healthcare.

Coriell Institute scientists, genetic counselors and information technology experts are
partnering with hospitals, doctors and other scientists to examine many different aspects
of this important question. Some participants are enrolled through community outreach.
Others may be enrolled through their healthcare provider. Some will be enrolled
because they have a particular health condition, while others will be enrolled regardless of health status.
Through examination of the genetic
variation in a large number of people, such as those enrolled in the CPMC study,
scientists may be able to identify new risk factors for common diseases.

We are dedicated to understanding the role of personalized medicine in healthcare.
This will take many years to figure out and will rely on the continued involvement
of participants.

In order to detect long term changes in health, participants will be asked to provide
annual updates to their medical history, family history, and lifestyle information.
In addition, participants will be asked to complete surveys about how learning their
disease risks has affected their health or health behavior.